"GeneDx"[submitter] AND "TGDS"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 1309690	NM_014305.4(TGDS):c.1034T>C (p.Leu345Ser)	TGDS (L313S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1261515	NM_014305.4(TGDS):c.983-34dup	TGDS	Duplication (intron variant)	not provided	GBenign
Select item 1244089	NM_014305.4(TGDS):c.983-23del	TGDS	Deletion (intron variant)	not provided	GBenign
Select item 1282312	NM_014305.4(TGDS):c.983-35_983-33del	TGDS	Deletion (intron variant)	not provided	GBenign
Select item 1228958	NM_014305.4(TGDS):c.983-35_983-34del	TGDS	Deletion (intron variant)	not provided	GBenign
Select item 1288190	NM_014305.4(TGDS):c.983-234G>A	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260430	NM_014305.4(TGDS):c.826-52T>C	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266539	NM_014305.4(TGDS):c.825+148_825+152del	TGDS	Deletion (intron variant)	not provided	GBenign
Select item 1241711	NM_014305.4(TGDS):c.660-201_660-200insCACTAATATGTTTGC	TGDS	Insertion (intron variant)	not provided	GBenign
Select item 1244948	NM_014305.4(TGDS):c.659+107C>T	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266393	NM_014305.4(TGDS):c.616-208A>G	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263818	NM_014305.4(TGDS):c.615+167A>G	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307216	NM_014305.4(TGDS):c.582T>G (p.Ser194Arg)	TGDS (S162R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287386	NM_014305.4(TGDS):c.457-164C>T	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180334	NM_014305.4(TGDS):c.456+173A>G	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364272	NM_014305.4(TGDS):c.329G>C (p.Arg110Pro)	TGDS (R110P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1273284	NM_014305.4(TGDS):c.314-67T>C	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294950	NM_014305.4(TGDS):c.314-136T>A	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307217	NM_014305.4(TGDS):c.308A>T (p.His103Leu)	TGDS (H103L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 162455	NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)	TGDS (A100S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 162459	NM_014305.4(TGDS):c.270_271del (p.Lys91fs)	TGDS (K59fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1289640	NM_014305.4(TGDS):c.223-73C>T	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244800	NM_014305.4(TGDS):c.87-279G>A	TGDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255243	NC_000013.11:g.94596312C>T	LOC130009954, TGDS	Single nucleotide variant	not provided	GBenign
Select item 1269376	NC_000013.11:g.94596497C>T	TGDS	Single nucleotide variant	not provided	GBenign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3362070	NM_014305.4(TGDS):c.476C>G (p.Pro159Arg)	TGDS (P127R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 30